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Article

TREM2 Alzheimer's variant R47H causes similar transcriptional dysregulation to knockout, yet only subtle functional phenotypes in human iPSC-derived macrophages.

Alzheimer's research & therapy - 16 Nov 2020

Hall-Roberts Hazel, Agarwal Devika, Obst Juliane, Smith Thomas B, Monzón-Sandoval Jimena, Di Daniel Elena, Webber Caleb, James William S, Mead Emma, Davis John B, Cowley Sally A

Abstract excerpt

BACKGROUND: TREM2 is a microglial cell surface receptor, with risk mutations linked to Alzheimer's disease (AD), including R47H. TREM2 signalling via SYK aids phagocytosis, chemotaxis, survival, and changes to microglial activation state. In AD mouse models, knockout (KO) of TREM2 impairs microglial clustering around amyloid and prevents microglial activation. The R47H mutation is proposed to reduce TREM2 ligand...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33198789
DOI: 10.1186/s13195-020-00709-z
PMCID: PMC7667762

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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